S19I (p.Ser19Ile) variant of ANK2 (Ankyrin-2)
S19I (p.Ser19Ile) in ANK2 (Ankyrin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- ESP rs369260005
- ExAC rs369260005
- TOPMed rs369260005
- gnomAD rs369260005
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.03
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.396